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Sudan J Paed. 2012; 12(1): 93-6


Meckel-Gruber syndrome: A rare and lethal anomaly.

Abdelmoneim E M Kheir; Abdelmutalab Imam; Ilham M Omer; Ibtsama M A Hassan; Sara A Elamin; Esra A Awadalla; Mohammed H Gadalla; Tagwa A Hamdoon.




Abstract

Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

Key words: Meckel-Gruber syndrome; Sudan; anomaly; child






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